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Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank

BACKGROUND: Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many individuals with detectable mCAs have no notable adverse outcomes, mCA-associated gene dosage alterations as well as clonal expan...

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Detalles Bibliográficos
Autores principales: Lin, Shu-Hong, Brown, Derek W., Rose, Brandon, Day, Felix, Lee, Olivia W., Khan, Sairah M., Hislop, Jada, Chanock, Stephen J., Perry, John R. B., Machiela, Mitchell J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299574/
https://www.ncbi.nlm.nih.gov/pubmed/34301302
http://dx.doi.org/10.1186/s13578-021-00651-z